ALDH4A1 Proteins

Protein Information

ALDH4A1 belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline.

Synonyms

A930035F14Rik; Ahd1; Ahd-1; aldehyde dehydrogenase 4 family member A1; aldehyde dehydrogenase 4 family, member A1; aldehyde dehydrogenase family 4 member A1; ALDH4; ALDH4A1; Aldh5a1; Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; E330022C09; L-glutamate gamma-semialdehyde dehydrogenase; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase; P5C dehydrogenase; P5cd; P5CDh; P5cdhl; P5cdhs; RP11-128M10.1; Ssdh1